Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.
Aertgeerts M et al.
Hemasphere, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Serbinski CR et al.
American Journal of Medical Genetics. Part A, 2024
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.
Crincoli E et al.
American Journal of Medical Genetics. Part A, 2023
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
Chevrier S et al.
International Journal of Molecular Medicine, 2022
Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.
Wang Q et al.
Molecular Genetics & Genomic Medicine, 2022
Craniosynostosis is a feature of Costello syndrome.
Weaver KN et al.
American Journal of Medical Genetics. Part A, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI et al.
Genes, 2021
Landscape of drug-resistance mutations in kinase regulatory hotspots.
Kim P et al.
Briefings in Bioinformatics, 2021
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.
Leoni C et al.
Orphanet Journal of Rare Diseases, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.
Davis AA et al.
Plastic and Reconstructive Surgery. Global Open, 2019
The identification of patient-specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild-type melanomas.
Appenzeller S et al.
Cancer, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
RASopathy in Patients With Isolated Sagittal Synostosis.
Davis AA et al.
Global Pediatric Health, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M et al.
Endocrine Reviews, 2018
BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.
Lim CS et al.
Genes & Development, 2017
Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes.
Kortüm KM et al.
Blood, 2016
Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.
Kortuem KM et al.
Blood Cancer Journal, 2016
Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.
Hassan MM et al.
Advances in Bioinformatics, 2016
Behavioral profile in RASopathies.
Alfieri P et al.
American Journal of Medical Genetics. Part A, 2014
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
Adachi M et al.
Seizure, 2012
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
Siegel DH et al.
The British Journal of Dermatology, 2011
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A et al.
Human Mutation, 2009
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL et al.
Clinical Genetics, 2008
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P et al.
Methods in Enzymology, 2008
Neurological complications of cardio-facio-cutaneous syndrome.
Yoon G et al.
Developmental Medicine and Child Neurology, 2007